A Hard Day's Night

The intriguing relationship between autism and sleep

By Kathy Whitney February 2012

Photo by Daniel Dubois. Illustration by Kylie Beck.

Beth Malow, M.D., M.S., is always on the go. Attending back-to-back meetings, she bursts into a room with an overloaded bag on her shoulder, lunch in her hand and a caffeine-free Diet Coke. It’s 2:30 p.m., and she hasn’t eaten yet, so she eats while she talks. She is a busy woman who rarely has time to rest, yet sleep is her area of expertise.

She is specifically interested in the sleep habits of children with autism. As a Vanderbilt Kennedy Center investigator, she is a nationally recognized expert in this area, juggling multiple research studies on the subject, while running the Sleep Disorders clinic, and serving as the principal investigator for Vanderbilt’s Autism Treatment Network Site.

Her research area is not necessarily one she chose but one that chose her. Malow, who treats the sleep disorders of children with autism, educates their tired and frustrated parents and runs clinical trials with the hope of improving their lives, is also the parent of two children, both of whom are on the autism spectrum.

Able to Empathize

A professor of Neurology and Pediatrics, Malow recalls that when her son Austin was a toddler he did not respond to her calling his name. She attributed that to his delayed language development, which she attributed to his being a boy.

“He was my first son, and I hadn’t been around younger kids because my brothers are both older than me. What I noticed was that Austin always liked to be in his car seat, and when I held him, he was kind of rigid. I had trouble getting him to respond to me, but I didn’t know what normal was.”

Beth Malow, M.D., and her husband Stephen Pert with their sons Austin, left, and Daniel, both of whom are on the autism spectrum. Photo by Daniel Dubois.

Malow, her husband, Stephen Pert, and Austin were living in Ann Arbor, Mich., when they sought a professional evaluation. Austin was diagnosed with autism within five minutes. Malow, who was pregnant with her second child at the time, was in shock.

“I thought, ‘What in the world is that?’ I thought kids with autism just sat in a corner in their own little world,” she said.

Malow had graduated from Northwestern University Medical School in 1986, completed a Neurology residency in Boston, and an epilepsy, EEG and sleep fellowship at the National Institutes of Health. She trained to practice adult neurology. She and her husband, whom Malow calls “one of the amazing supports in my life,” quickly educated themselves on autism.

“We did everything in our power to interact with Austin. We got everyone to interact with him. He got better, like really making nice strides. We got him into preschool. The teachers made him look them in the eye and they taught him how to look at them. They taught me that you can’t just ask him to talk, you’ve got to make him talk.”

Ten years later, Malow still remembers clearly the day her son, now 13, spoke.

“I was driving home from preschool with him. I put on the Dixie Chicks, and I knew he hated country music because he would make grunting sounds. I said, ‘Austin, if you want me to turn off the music, I will, but you’ve got to say stop.’ More grunts. ‘Whenever you’re ready I will turn off the music but you’ve got to say stop.’ He said ‘stop.’ That was the first time he ever said a word to convey that he needed or wanted something.”

Fortunately, Austin was a good sleeper from the time of infancy. Her second son, Daniel, now 10, also diagnosed with autism, experienced trouble falling asleep and staying asleep. Malow and her husband put into practice some of the sleep hygiene protocols she gives to her patients, including the use of a bedtime pass which motivated Daniel to stay in bed throughout the night in exchange for a wrapped gift the next day, a concept developed by child psychologist Patrick Friman.

“After three nights of doing this, he slept through the night. We didn’t have to do it anymore,” she said.

Malow shares her personal experiences with her patients and their parents, and for Joellyn Boggess of Paducah, Ky., it made all the difference.

Boggess’ daughter, Erin, was diagnosed with Asperger’s syndrome a year ago. Her daughter was very active and had difficulty calming down enough to fall asleep. Boggess and her husband also have 5-year-old twins and the whole family was exhausted from too little sleep.

They enrolled in Malow’s sleep education study and during the course of that trial, Malow called Boggess to talk through some concerns.

“It was so nice to talk with a physician who understood. You rarely get one who understands your life is different on a daily basis. When she said she has children with autism, I knew I didn’t have to explain anything to her. You don’t understand unless you have this life and a child with special needs. You don’t know how stressful it is,” Boggess said.

Studying Sleep and Behavior

Malow runs two sleep clinics per week and treats a variety of sleep disorders in both adults and children.

“I did more adult sleep than pediatrics before I had kids. I like the idea of whether you’re 2 or 92, whether you have insomnia, sleep apnea or narcolepsy, your sleep disorder can be treated. I really like that,” she said. “What’s different is I now have a group of kids with autism who are referred to my clinic. My research interest has shifted from sleep and epilepsy to sleep and autism.”

Sleep research is one of the many initiatives made possible through Vanderbilt’s participation in the national Autism Treatment Network. Photo by Daniel Dubois.

Two-thirds of children with autism are reported to have a sleep disorder, which is confirmed by objective measures like actigraphy, which monitors sleep by tracking movements at night via a wristwatch-like device. It requires parents to keep accurate sleep diaries since actigraphy needs to be interpreted in the context of when the child went to bed and arose from bed.

The most prevalent sleep disorder among children on the autism spectrum is insomnia, which can take the form of difficulty going to sleep, waking up at night or early morning waking. Short sleep duration – three to four hours a night – is also common.

“When you take a child who is already impaired and has issues with focusing, behavior, social interaction and executive functions and throw on top of it their not sleeping, it’s going to take a toll,” she said. “I’ve had parents who have participated in our observational studies commonly say if their children get more sleep on any given night they are much better the next day, they are less volatile, calmer.”

Malow suspects that co-occurring medical conditions such as anxiety, depression or epileptic seizures, each common in children with autism, contribute to the problem, as well as poor sleep hygiene such as too much stimulation before bedtime or lax bedtime rules due to parents’ frustration. There may be underlying genetic factors as well.

“I am trying to clean up their sleep, fix the things that are fixable. That makes great sense clinically. I want to know how many kids who are not sleeping well will start if you do a few simple things with the parents, as opposed to those who will still not sleep well if you do a few things with the parents. I think they are different genetically.”

If a family changes its sleep behavior and addresses medical conditions and sleep does not improve for the child, then Malow begins to look at neurobiological factors such as melatonin deficiency. Her research has documented, and is supported by outside studies, that melatonin
is low in some children with autism. Neurotransmitters, serotonin and GABA receptors have been implicated in autism and also in sleep.

“If someone has low or delayed melatonin, they may have more trouble falling asleep. By giving supplemental melatonin you are replacing the melatonin they don’t have or giving it to them at a time when they need it to sleep,” she said. “We need to study if this theory actually is correct, however.”

It is important for parents to recognize that melatonin is a drug, and needs to be given under the care of a physician, Malow said.

A recent Vanderbilt study indicates that melatonin shows promise in helping children with autism spectrum disorders (ASD), and their families, sleep better.

The study, published in the Journal of Autism and Developmental Disorders in January, contributes to the growing literature on supplemental melatonin for insomnia in ASD.

Malow and colleagues recruited children ages 3-9 years with a clinical diagnosis of an ASD whose parents reported sleep onset delay of 30 minutes or longer on three or more nights per week.

Supplemental melatonin, given 30 minutes before bedtime at 1 mg or 3 mg dosages, improved the amount of time it takes to fall asleep in most children.

Melatonin was effective in the first week of treatment, maintained effectiveness over several months, was well-tolerated and safe, and showed improvement in sleep, behavior and parenting stress.

“We really need to do this evidence-based work. We just don’t know yet enough about sleep and autism to make solid recommendations. We don’t know how many children will respond to behavioral treatment alone; we don’t know how many will respond to behavioral treatment and melatonin.”

Receiving Recognition

In September 2011, Malow was one of 10 Vanderbilt University faculty members named to endowed chairs, recognized for outstanding leadership in their academic fields. She received the Burry Chair in Cognitive Childhood Development in the Department of Pediatrics. VUSM alumnus Michael Burry, M.D., MD ’97, was present for the ceremony.

Burry, profiled in author Michael Lewis’ bestselling book “The Big Short,” is best known as the first financial analyst to predict America’s financial crisis. Burry was diagnosed with Asperger’s syndrome as an adult and has a son with the same diagnosis.

It was an emotional event for Malow and her family, including her parents who came in from South Florida for the ceremony on Sept. 26, 2011, the day after Austin’s 13th birthday.

“It was a very intense time for me. My husband and I never thought Austin would talk or play sports. And now we can’t get him to shut up. He’s very popular in school. He is doing great,” she said.

Malow and Burry had a chance to talk over dinner and she shared her unique viewpoint on working with and raising children with autism.

“I think that there is a lot of talent and skills that people with autism possess. I think that the problem is they can’t succeed in our society because they are held back in lots of different ways, particularly socially,” she said. “I think if people are sleeping better, they can be more focused and engaged.”

The Autism Speaks’ Board of Directors recently renewed Vanderbilt University as an Autism Treatment Network (ATN) site with a three-year, $420,000 grant to continue developing standards and guidelines for the evaluation and treatment of medical conditions associated with autism. Vanderbilt was first selected as a site in 2008 and is one of 17 centers in the United States and Canada.

Malow said the grant would be used to fund initiatives under way in the medical and behavioral aspects of autism research and development of clinical guidelines.

“I really see, not just in my own kids, but interacting with other kids in the autism community, how much potential there is for these kids and adults and how, if we can just help them with their medical and psychological issues, we can help them lead fulfilled lives and contribute in a positive way to society.

“I think some of the brilliance, focus and honesty that these individuals possess is actually very important for us all. If we can free that up, it’s very exciting. That’s my mission.”